Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1

(2019) Vera Fridman et al.   NEUROLOGY

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

(2019) Marin L. Gantner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

(2018) Emma R. Wilson et al.   NEUROBIOLOGY OF DISEASE

A phenotype centric benchmark of variant prioritisation tools

(2018) Denise Anderson et al.   npj Genomic Medicine

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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(2018)   HUMAN MUTATION

Phase I clinical trial of safety of L-serine for ALS patients

(2016) Todd D. Levine et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Monogenic neurological disorders of sphingolipid metabolism

(2015) Frédérique Sabourdy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

(2013) Michaela Auer-Grumbach et al.   European Journal of Medical Genetics

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

(2011) Kevin Garofalo et al.   JOURNAL OF CLINICAL INVESTIGATION

Roles for dysfunctional sphingolipid metabolism in Alzheimer's disease neuropathogenesis

(2010) Norman J. Haughey et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

(2010) Anke Penno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

(2010) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Rapid, reproducible transduction of select forebrain regions by targeted recombinant virus injection into the neonatal mouse brain

(2009) Noam Pilpel et al.   JOURNAL OF NEUROSCIENCE METHODS

Sphingolipidomics: a valuable tool for understanding the roles of sphingolipids in biology and disease

(2008) Alfred H. Merrill et al.   JOURNAL OF LIPID RESEARCH